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Disease: Platelet-type Von-willebrand Disorder (PT-VWD)
Patient: 17 yo, male, adopted
Variant: GP1BA NM_000173.7: c:580C>T p.(P.Leu194Phe), Heterozygous, gain-of-function
Phenotypes: moderate bleeding phenotype, ISTH-BAT bleeding score of 3, recurrent epistaxis, easy bruising, mild thrombocytopenia
Family: Adopted, no other family history mentioned, segregation studies not performed.
Genetic analysis performed: found variant in GP1BA, results obtained by sanger sequencing.
Variant present in gnomAD(rs368111193): low allele frequency, contradictory classifications
Variant is not present in ClinVar, LOVD, or HGMD databases
According to this paper, ACMG guidelines classified this variant as a VUS.
This paper entered it into Clinvar (var ID 1693270)
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- Sep 2024
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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heterozygous c.G380A variant in GP1BA (NM_000173.7) (Figure 1B), resulting in a missense substitution of an arginine with a glutamine at position 127
Disease: platelet-type von Willebrand disease (PT-VWD)
Patient: 14 yo, Male
Variant: GP1BA NM_000173.7:c.389G>A p.(Arg127Gln), Heterozygous, Gain-of-Function (GOF)
Located in LRR5 domain of GP1BA
Family: Mother did not refer any bleeding symptoms (variant absent in mother) Father not available for collection of clinical history or platelet function testing
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